Regulatory challenges to the treatment of rare and orphan diseases

Maritza Reátegui
Estudio Rodrigo, Lima
Mreategui@estudiorodrigo.com

Solange Noriega
Estudio Rodrigo, Lima
Snoriega@estudiorodrigo.com

Introduction

The treatment of rare and orphan diseases (RODs) is a growing challenge for countries’ health systems, and Peru is no exception. RODs are characterised by their low prevalence, diagnostic complexity and the limited availability of effective treatments. In Peru, the legal framework has evolved in recent years to respond to the needs of this patient population, recognising their right to comprehensive and timely care.

This article analyses the main regulatory challenges facing the treatment of RODs in Peru, based on the analysis of three key regulations: Law No. 29698, the relevant regulations pursuant to Supreme Decree No. 002-2025-SA and Law No. 32319. The objective of this article is to provide a clear and understandable overview of the regulatory advancements in Peru in regard to the treatment of RODs and the areas that still require improvements.

With regard to public sector financing through Comprehensive Health Insurance (Seguro Integral de Salud or SIS) and the Intangible Health Solidarity Fund (El Fondo Intangible Solidario de Salud or FISSAL), the Peruvian government has guaranteed free coverage for more than 142,000 patients diagnosed with these pathologies, prioritising autoimmune, metabolic and neurological diseases. At the same time, the General Directorate of Medicines, Supplies and Drugs (La Dirección General de Medicamentos, Insumos y drogas or DIGEMID) has implemented innovative regulatory mechanisms, such as a 45 calendar day health registration limit, with positive administrative silence procedures for products authorised in countries with a high level of health surveillance (PAVS),^[1] thus optimising the evaluation and registration processes for ROD medicines and medical devices and improving patient access times.

The regulatory framework

Law No. 29698: The law declaring that the treatment of people suffering from RODs is of national interest and is a priority

This law was published in 2011 and, among other things, recognises the priority nature of these diseases within national health policy and establishes the state’s obligation to guarantee access to treatments, medicines and specialised services.

It also establishes that a National Registry of Patients with RODs must be created in order to generate an up-to-date information system on this type of disease. The purpose of the registry is to obtain greater knowledge regarding the incidence, prevalence and mortality in each geographical area and to identify the health, social and scientific resources that are required.

Supreme Decree No. 002-2025-SA: Regulations pertaining to Law No. 29698

This regulation, published in April 2025, establishes definitions, the functioning of the National Registry of Patients with RODs, establishes mechanisms for the evaluation of health technologies and details the procedures for the acquisition of medicines and medical devices through differentiated mechanisms.

Law No. 32319: The law establishing measures to facilitate access to medicines and biological products registered in PAVS for the treatment of RODs, cancer and other diseases

This regulation establishes an accelerated evaluation procedure for the registration of health-related products intended for the treatment of RODs, cancer and other serious diseases. This law provides for the registration of pharmaceutical products that are registered in a PAVS, with no technical or medical requirements necessary other than the accreditation of the said prior registration.

It also stipulates that DIGEMID must decide on the outcome of applications for registration or re-registration on the health registry within a period of no more than 45 calendar days. The authority must apply positive administrative silence, meaning that if the authority does not issue a response by the deadline, the request for registration with the health registry will be deemed approved. It should be noted that, notwithstanding the pending approval of the regulation, DIGEMID has been applying this accelerated evaluation procedure.

The main regulatory challenges

One of the most significant challenges in this area is the precise identification of diseases that qualify as RODs. Although the regulations establish technical criteria in this regard (such as a prevalence of less than or equal to one person per 2,500 inhabitants), the updating of the official list depends on administrative processes and is only carried out every two years. The frequency of this review process may be insufficient given the dynamic nature of medical research.

On the other hand, Law No. 32319 establishes an accelerated health registration procedure for products approved by PAVS. Although this measure reduces evaluation times, its implementation faces some challenges, such as:

• the need to submit complete information on the product’s quality, safety and efficacy in the format of a common technical document, which has been authorised in regard to the PAVS;
• the need for stability studies in climate zone IV-A or IV-B;
• the need for a pharmaceutical product certificate or free sale certificate, certifying that the pharmaceutical product is authorised and is being marketed in that PAVS; and
• the need for a risk management plan, as well as labelling, a technical data sheet and package insert in Spanish, and a batch release certificate issued by the competent authority in the product’s country of origin in the case of vaccines and plasma derivatives.

It also establishes that the validity and conditions for updating (modifications or changes to the product’s health registration and compliance with specific obligations) the health registration will be the same as those granted in regard to the PAVS.

In addition, the requirements set out in Law No. 32319 establish that products that exceed the high-cost threshold must be evaluated using a multi-criteria process (ETS-MC), according to certain criteria set out in the regulation.

With regard to financing, the treatment of RODs usually involves high-cost drugs, genetic therapies and specialised devices. In this regard, public health insurance fund administration institutions (IAFASs) are required to finance these benefits, and specific procedures must be followed by each health facility to support the use of pharmaceutical products in duly diagnosed ROD cases. Another important challenge is to streamline the procedures for purchasing products that are not included in the Single National List of Essential Medicines (Petitorio Nacional Único de Medicamentos Escenciales or PNUME).

Conclusion

Although Peru has taken some important steps to guarantee the right to health for people with RODs, there are still some issues that need to be addressed to aid the procurement of and access to necessary pharmaceutical products for the treatment of patients with RODs. The existence of a specific legal framework, the incorporation of health technology assessment mechanisms and the relaxation of the relevant health registration requirements are significant advancements in this area of medicine.

It is an urgent and pending issue to update the list of RODs (the last update was approved in 2020) in order to incorporate new diseases. Likewise, all possible tools must be used to ensure that the national patient registry is accurate, which currently does not incorporate up-to-date information and does not provide an overview of the real status and conditions of patients with RODs in the country. Some of the challenges that need to be addressed include creating mechanisms to develop a national plan for training specialists, with incentives for decentralisation and continuing education; and the promotion of applied research through partnerships with universities and public–private funding, among others.